Nara Colceriu, a five-year-old from Edinburgh, has been diagnosed with Angelman Syndrome, a rare neurological disorder that means she will never be able to speak and may experience seizures. Her mother, Anamaria Colceriu, 38, noticed a key detail immediately after giving birth that something was wrong, but it took years of persistence to get a diagnosis.
Fighting for a Diagnosis
Anamaria first sensed something wasn't right right after Nara was born. However, multiple GP appointments in Scotland dismissed her concerns. Determined to find answers, she took Nara to her home country, Romania, for tests when the child was three years old. There, doctors diagnosed Nara with Angelman Syndrome.
"My heart dropped when we were told she had Angelman Syndrome," Anamaria told Edinburgh Live. "I didn't believe it. I was in denial. She never inherited the condition from any of us. It just happened."
Living with Angelman Syndrome
Angelman Syndrome is a genetic condition affecting the nervous system, causing severe physical and learning disabilities. It occurs in one in 15,000 live births, affecting around 500,000 people worldwide. Nara will be non-verbal for her entire life, though she can say words like 'mama' and 'dada'. She will likely never be able to read or write, has balance issues, and still wears nappies.
"She'll be non-verbal for her whole life and may suffer a lot of seizures," Anamaria said. "She probably won't be able to read or write and her balance is impacted as well. She's still in nappies, too. I don't know if that will continue for the rest of her life."
Early Signs and Milestones
Nara's parents noticed developmental delays when she was around four months old. She smiled and made eye contact but did not crawl, and only started walking at 17 months. Her balance was off, but doctors initially dismissed these concerns. In Romania, a doctor identified multiple symptoms of Angelman Syndrome, confirming the diagnosis.
Despite her challenges, Nara is a happy and bubbly child. She attends mainstream nursery and loves water, bubbles, and dancing. Her mother is learning sign language to communicate better with her. "You can't make Nara talk but she'll show you exactly what she wants. And she understands everything," Anamaria said.
Need for Awareness and Support
Anamaria believes more awareness is needed about Angelman Syndrome, as the family received little support. "It doesn't matter what you have, whether it's autism or ADHD, you should be given more help," she said. To raise funds for AngelmanUK, Nara's uncle Ross is preparing to take on a 10-mile inflatable obstacle course.
